Skip to main content

Table 3 Indications for study in 45 individuals found to have the 16p11.2 microdeletion

From: Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

Asperger syndrome

Autism (2)

Autism, failure to thrive, multiple exostosis syndrome

Borderline newborn screening, failure to thrive, altered mental status

Chromosome Y deletion

Congenital anomaly

Developmental delay (1)(1) (6)

Developmental delay, autistic features, polycystic kidneys

Developmental delay, dysmorphic features (6) (2)

Developmental delay, dysmorphic features, failure to thrive

Developmental delay, hypotonia, obesity

Developmental delay, multiple congenital anomalies

Developmental delay, obesity, congenital facial/neck anomaly

Double outlet right ventricle

Dysmorphic features

Dysmorphic features, ADHD

Encephalopathy (1) (1)

Failure to thrive

Hyperactivity, mixed development disorder

Microtia, hearing loss, agenesis of corpus callosum

Multiple congenital anomalies (1) (2)

Pervasive developmental disorder, dyslalia, learning difficulties

Prader-Willi-like syndrome

Seizure disorder

Speech and language deficits

Speech disturbance

Undersocialized conduct disorder

  1. Numbers in parentheses indicate multiple cases referred for the same indication. Bold cases supplied further clinical information and are included in the phenotypic analysis. Italicized cases were excluded from phenotypic analysis due to another significant finding on aCGH